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POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic Test

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POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic Test

Short Name: POLG NGS Genetic Test

Also known as: POLG Gene Mutation Test, SANDO NGS Genetic Test, POLG-related disorders NGS Test, Mitochondrial Neuropathy Gene Test

POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the POLG gene that are associated with mitochondrial neuropathies, including sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. This NGS test aids in the molecular confirmation of POLG-related disorders and supports genetic counseling for affected families.

Test Code
4423
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please bring the clinical history, previous neurological evaluation records, and any family pedigree details.

Method: Venipuncture or Finger prick for FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will draw 2-3 ml of peripheral blood in an EDTA tube. Alternatively, a drop of blood may be placed on the FTA card for dried blood spot testing.

Step 3

Report Delivery

The sample is then sent to the laboratory. You can resume normal activities immediately.

Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. Bring any prior medical records, imaging, and family history details for comprehensive interpretation.
2
During the Test:The test is a simple blood draw or FTA card spot. The procedure takes less than five minutes.
3
After the Test:No restrictions after sample collection. Reports are typically sent electronically in 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic variants in the POLG gene that are associated with mitochondrial neuropathies, including sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. This NGS test aids in the molecular confirmation of POLG-related disorders and supports genetic counseling for affected families.

How to Prepare

  • No fasting required
  • Provide clinical history and pedigree
  • Informed consent for genetic testing must be signed
  • Ensure correct labelling with patient identity

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic confirmation is essential for patients presenting with progressive ataxia and ophthalmoparesis. NGS testing of the POLG gene enables accurate diagnosis, prognostic counselling, and screening of at-risk family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 ml peripheral blood or 1 µg extracted DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick for FTA card

Sample Stability

Blood at room temperature: 24-48 hours
Extracted DNA at -20°C: 1 year
FTA card at room temperature: up to 1 year
Sample Rejection Criteria:
  • Haemolysed blood samples
  • Insufficient sample volume
  • Spilled or unlabelled samples
  • Sample in non-EDTA container (e.g., plain tube)

Understanding Your Results

The POLG gene NGS genetic test identifies germline sequence variants in the POLG gene. Variants are classified according to ACMG-AMP guidelines.
📊

Pathogenic or Likely Pathogenic variant detected

Confirms the genetic diagnosis. Genetic counselling recommended for family risk assessment.

📊

Variant of Uncertain Significance (VUS)

Fails to confirm or exclude the diagnosis. Additional testing, segregation analysis, or functional studies may be needed.

📊

No pathogenic variant detected

Reduces the likelihood of POLG-related disorder but does not completely eliminate a mitochondrial or other genetic cause.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist for personalised risk assessment and management if you or a family member carry a POLG pathogenic variant.

Limitations

  • ⚠NGS may not reliably detect large deletions or duplications unless CNV analysis is performed.
  • ⚠Variants in non-coding regulatory regions beyond the exon-intron boundaries may be missed.
  • ⚠Low-level mosaicism below 10% may not be detected.
  • ⚠Variants of uncertain significance may require additional family segregation studies.

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Dizziness or fainting during blood collection
  • ●Psychological stress from receiving genetic test results

Interfering Factors

  • ●Recent blood transfusion
  • ●Clonal haematopoiesis
  • ●Bone marrow transplant
  • ●Extensive DNA degradation
  • ●Insufficient DNA yield

Compare With Similar Tests

TestPOLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic TestPOLG Gene NGS Genetic TestMitochondrial Genome NGS TestInherited Neuropathy NGS Panel
ComparisonPOLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic Test

Frequently Asked Questions

What is POLG gene neuropathy?
POLG gene neuropathy is a mitochondrial disorder caused by mutations in the POLG gene, leading to defective DNA polymerase gamma and mitochondrial DNA instability. It often presents with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).
What are the main symptoms of POLG gene neuropathy?
Common symptoms include sensory ataxia (unsteadiness), dysarthria (slurred speech), ophthalmoparesis (eye muscle weakness), peripheral neuropathy, seizures, muscle weakness, fatigue, hearing loss, and sometimes liver failure.
What is SANDO syndrome?
SANDO stands for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis. It is a specific phenotype caused by POLG mutations and is often later-onset.
How is POLG gene neuropathy diagnosed?
Diagnosis is based on clinical evaluation, nerve conduction tests, MRI, and confirmed by genetic testing. NGS-based sequencing of the POLG gene is the gold standard.
What is the cost of the POLG NGS genetic test in India?
At DNA Labs India, the cost is ?20,000 including free home sample collection, raw data files (FASTQ, VCF), and a conclusive clinical report. The price may vary with other providers.
What sample types are accepted?
We accept whole blood in EDTA, extracted DNA, or one drop of blood on FTA card.
How long does the report take?
Turnaround time is 3 to 4 weeks from the date of sample receipt.
Can children be tested?
Yes, a paediatrician or child neurologist may order this test for children with suspected mitochondrial disease. Parental guidance and informed consent are required.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across major cities in India. Availability is confirmed during booking.
Will I receive raw data and VCF files?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ, VCF) along with the clinical report.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic or likely pathogenic POLG variant, which confirms the clinical diagnosis. Genetic counselling is recommended for inheritance risk.
Is genetic counselling recommended?
Yes, genetic counselling before and after the test is essential to understand the implications, inheritance patterns, and recurrence risks for family members.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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